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Concept information

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Marfan Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Marfan Syndrome
Musculoskeletal Diseases > Bone Diseases > Bone Diseases, Developmental > Marfan Syndrome
Cardiovascular Diseases > Heart Diseases > Heart Defects, Congenital > Marfan Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Cardiovascular Abnormalities > Heart Defects, Congenital > Marfan Syndrome
Cardiovascular Diseases > Cardiovascular Abnormalities > Heart Defects, Congenital > Marfan Syndrome
Skin and Connective Tissue Diseases > Connective Tissue Diseases > Marfan Syndrome

Terme préférentiel

Marfan Syndrome  

Type

  • mesh:Descriptor

Définition

  • An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE, dilation of the AORTA, and aortic dissection. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome (type 1) is associated with mutations in the gene encoding FIBRILLIN-1 (FBN1), a major element of extracellular microfibrils of connective tissue. Mutations in the gene encoding TYPE II TGF-BETA RECEPTOR (TGFBR2) are associated with Marfan syndrome type 2.

Concept générique

Concepts associés

Synonyme(s)

  • Marfan's Syndrome

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-SH1X0BVS-3

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RDF/XML TURTLE JSON-LD Date de création 01/01/1999, dernière modification le 30/06/2021